ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the ABHD5 gene, which plays a critical role in lipid metabolism and cellular function. Chanarin-Dorfman syndrome is an autosomal recessive disorder characterized by the abnormal accumulation of neutral lipids in various tissues throughout the body.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic test specifically targets the ABHD5 gene (also known as CGI-58), which encodes an enzyme crucial for triglyceride hydrolysis. The test detects:
- Point mutations, deletions, and insertions in the ABHD5 gene
- Single nucleotide variants affecting lipid metabolism pathways
- Genetic markers associated with neutral lipid storage disease
- Inheritance patterns for autosomal recessive conditions
- Specific variants linked to ichthyosis and multisystem involvement
Who Should Consider This Genetic Test?
This specialized genetic screening is recommended for individuals presenting with:
- Persistent scaly skin or ichthyosis from birth or early childhood
- Unexplained muscle weakness or myopathy
- Liver abnormalities including hepatomegaly or elevated liver enzymes
- Developmental delays or neurological symptoms
- Family history of similar metabolic disorders
- Consanguineous parents or known carrier status in family members
- Unexplained lipid storage abnormalities in previous medical evaluations
Significant Benefits of Genetic Testing
Undergoing the ABHD5 gene test provides numerous advantages for patients and families:
- Early and Accurate Diagnosis: Enables precise identification of Chanarin-Dorfman syndrome
- Personalized Treatment Planning: Guides targeted therapeutic interventions
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Proactive Health Management: Allows for early intervention and monitoring
- Genetic Counseling Support: Offers comprehensive family risk assessment
- Improved Quality of Life: Facilitates better symptom management strategies
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates presence of ABHD5 gene mutations confirming Chanarin-Dorfman syndrome diagnosis
- Negative Result: Suggests absence of detectable mutations in the ABHD5 gene
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and treatment. Our genetic testing specialists are ready to assist you with comprehensive screening and personalized care. Contact us now to schedule your ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Book your appointment today and take the first step toward understanding your genetic health with confidence and clarity.
